A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy

Abstract Background Dilated cardiomyopathy (DCM) is the most common cardiomyopathy with a common presentation of heart failure. It has been reported that CASZ1 loss‐of‐function mutation contributes to familial DCM and congenital ventricular septal defect (VSD). To date, only two pathogenic variants...

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Main Authors:	Jun Guo, Zheng Li, Chanjuan Hao, Ruolan Guo, Xuyun Hu, Suyun Qian, Jiansheng Zeng, Hengmiao Gao, Wei Li
Format:	Article
Language:	English
Published:	Wiley 2019-08-01
Series:	Molecular Genetics & Genomic Medicine
Subjects:	CASZ1 variant DCM LVNC whole‐exome sequencing
Online Access:	https://doi.org/10.1002/mgg3.828

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spelling	doaj-4b62438b8dd04cc0aef069e48190072c2020-11-25T01:08:25ZengWileyMolecular Genetics & Genomic Medicine2324-92692019-08-0178n/an/a10.1002/mgg3.828A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathyJun Guo0Zheng Li1Chanjuan Hao2Ruolan Guo3Xuyun Hu4Suyun Qian5Jiansheng Zeng6Hengmiao Gao7Wei Li8Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Genetics and Birth Defects Control Center, Beijing Children's Hospital Capital Medical University, National Center for Children's Health Beijing ChinaPediatric Intensive Care Unit, Beijing Children's Hospital Capital Medical University, National Center for Children's Health Beijing ChinaBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Genetics and Birth Defects Control Center, Beijing Children's Hospital Capital Medical University, National Center for Children's Health Beijing ChinaBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Genetics and Birth Defects Control Center, Beijing Children's Hospital Capital Medical University, National Center for Children's Health Beijing ChinaBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Genetics and Birth Defects Control Center, Beijing Children's Hospital Capital Medical University, National Center for Children's Health Beijing ChinaPediatric Intensive Care Unit, Beijing Children's Hospital Capital Medical University, National Center for Children's Health Beijing ChinaPediatric Intensive Care Unit, Beijing Children's Hospital Capital Medical University, National Center for Children's Health Beijing ChinaPediatric Intensive Care Unit, Beijing Children's Hospital Capital Medical University, National Center for Children's Health Beijing ChinaBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Genetics and Birth Defects Control Center, Beijing Children's Hospital Capital Medical University, National Center for Children's Health Beijing ChinaAbstract Background Dilated cardiomyopathy (DCM) is the most common cardiomyopathy with a common presentation of heart failure. It has been reported that CASZ1 loss‐of‐function mutation contributes to familial DCM and congenital ventricular septal defect (VSD). To date, only two pathogenic variants in CASZ1 have been previously reported worldwide. Methods To identify the causative variant in an 11‐month‐old Chinese boy with DCM and left ventricular noncompaction cardiomyopathy (LVNC), trio‐whole‐exome sequencing was performed followed by mutational analysis and Sanger sequencing. Results An unreported de novo heterozygous frameshift variant (c.2443_2459delGTGGGCACCCCCAGCCT, p.Val815Profs*14) in CASZ1 was idenitified in the proband. The frameshift mutation in CASZ1 not only led to DCM but also presented an LVNC phenotype. Conclusion We have identified a novel CASZ1 variant in a patient with combined DCM and LVNC for the first time, thus broadening the phenotypic spectrum of CASZ1 variants. Furthermore, this study emphasized the usefulness of whole‐exome sequencing for genetic diagnosis of cardiomyopathy.https://doi.org/10.1002/mgg3.828CASZ1 variantDCMLVNCwhole‐exome sequencing
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Jun Guo Zheng Li Chanjuan Hao Ruolan Guo Xuyun Hu Suyun Qian Jiansheng Zeng Hengmiao Gao Wei Li
spellingShingle	Jun Guo Zheng Li Chanjuan Hao Ruolan Guo Xuyun Hu Suyun Qian Jiansheng Zeng Hengmiao Gao Wei Li A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy Molecular Genetics & Genomic Medicine CASZ1 variant DCM LVNC whole‐exome sequencing
author_facet	Jun Guo Zheng Li Chanjuan Hao Ruolan Guo Xuyun Hu Suyun Qian Jiansheng Zeng Hengmiao Gao Wei Li
author_sort	Jun Guo
title	A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy
title_short	A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy
title_full	A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy
title_fullStr	A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy
title_full_unstemmed	A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy
title_sort	novel de novo casz1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy
publisher	Wiley
series	Molecular Genetics & Genomic Medicine
issn	2324-9269
publishDate	2019-08-01
description	Abstract Background Dilated cardiomyopathy (DCM) is the most common cardiomyopathy with a common presentation of heart failure. It has been reported that CASZ1 loss‐of‐function mutation contributes to familial DCM and congenital ventricular septal defect (VSD). To date, only two pathogenic variants in CASZ1 have been previously reported worldwide. Methods To identify the causative variant in an 11‐month‐old Chinese boy with DCM and left ventricular noncompaction cardiomyopathy (LVNC), trio‐whole‐exome sequencing was performed followed by mutational analysis and Sanger sequencing. Results An unreported de novo heterozygous frameshift variant (c.2443_2459delGTGGGCACCCCCAGCCT, p.Val815Profs*14) in CASZ1 was idenitified in the proband. The frameshift mutation in CASZ1 not only led to DCM but also presented an LVNC phenotype. Conclusion We have identified a novel CASZ1 variant in a patient with combined DCM and LVNC for the first time, thus broadening the phenotypic spectrum of CASZ1 variants. Furthermore, this study emphasized the usefulness of whole‐exome sequencing for genetic diagnosis of cardiomyopathy.
topic	CASZ1 variant DCM LVNC whole‐exome sequencing
url	https://doi.org/10.1002/mgg3.828
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A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy

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